RGD:150535852 Rat Genome Database

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Variant: RGD:150535852 -  Homo sapiens

RGD ID: 150535852
RS ID: rs138116919
ClinVar ID: CV1307139
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EGF  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 4 110,909,049
GRCh38 4 109,987,893
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001357021.2:c.2365+4352C>A
NM_001963.6:c.2608+33C>A
NC_000004.12:g.109987893C>A
NC_000004.11:g.110909049C>A
More... 		05/30/2020 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:EGF
Accession:NM_001963
Location:INTRON

Gene Symbol:EGF
Accession:NM_001178130
Location:INTRON

Gene Symbol:EGF
Accession:NM_001178131
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:EGF
Accession:NM_001357021
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001759194 CLINVAR
dbSNP (RS) rs138116919 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene EGF CLINVAR
OMIM 131530 CLINVAR